Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Jakmip2'

210104

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43664472-43820838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43700209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 450 (T450A)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082254]

AlphaFold

D3YXK0

Predicted Effect

probably benign
Transcript: ENSMUST00000082254
AA Change: T450A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: T450A

Domain	Start	End	E-Value	Type
coiled coil region	13	102	N/A	INTRINSIC
coiled coil region	206	249	N/A	INTRINSIC
Pfam:JAKMIP_CC3	409	602	2.3e-86	PFAM
coiled coil region	698	808	N/A	INTRINSIC

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,847,924 (GRCm39)	L852F	possibly damaging	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Alg11	T	G	8: 22,555,584 (GRCm39)	C240G	probably damaging	Het
Aox1	A	G	1: 58,141,783 (GRCm39)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,150,678 (GRCm39)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,528,511 (GRCm39)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,763,340 (GRCm39)	S865R	probably benign	Het
Ass1	T	A	2: 31,383,160 (GRCm39)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,187,051 (GRCm39)		probably null	Het
Btnl10	C	A	11: 58,811,367 (GRCm39)	P230Q	possibly damaging	Het
C3	A	G	17: 57,516,489 (GRCm39)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,464,032 (GRCm39)	D292E	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cic	C	A	7: 24,986,265 (GRCm39)	T1229K	probably damaging	Het
Clip4	T	C	17: 72,144,744 (GRCm39)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,739,421 (GRCm39)	I269R	probably damaging	Het
Dbh	C	T	2: 27,071,506 (GRCm39)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 70,890,713 (GRCm39)	R83*	probably null	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dnah1	A	G	14: 30,984,515 (GRCm39)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,670,721 (GRCm39)	D510E	probably benign	Het
Dock6	A	G	9: 21,752,925 (GRCm39)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,177,455 (GRCm39)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,352,737 (GRCm39)	G461V	possibly damaging	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gm10684	A	G	9: 45,021,511 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,231 (GRCm39)	E320G	probably benign	Het
Gm14412	G	T	2: 177,007,269 (GRCm39)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,007,630 (GRCm39)	S88R	probably benign	Het
Grhl1	T	A	12: 24,658,555 (GRCm39)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,664,511 (GRCm39)	Y216*	probably null	Het
Hephl1	A	C	9: 14,985,420 (GRCm39)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,301,922 (GRCm39)		probably null	Het
Hs3st6	A	G	17: 24,977,110 (GRCm39)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,357,077 (GRCm39)	V9I	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,351,634 (GRCm39)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,321,291 (GRCm39)	I58F	probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,308 (GRCm39)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,131,023 (GRCm39)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,691,295 (GRCm39)	M262K	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2r11	C	T	6: 42,437,360 (GRCm39)	V198M	probably benign	Het
Or2t26	A	C	11: 49,039,101 (GRCm39)	N6H	possibly damaging	Het
Or4c115	G	A	2: 88,927,888 (GRCm39)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,804,403 (GRCm39)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,182,861 (GRCm39)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,638,885 (GRCm39)	D58E	probably benign	Het
Rgl2	A	G	17: 34,151,122 (GRCm39)	T117A	probably benign	Het
Rp1	A	G	1: 4,418,943 (GRCm39)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,207,536 (GRCm39)	E233G	probably damaging	Het
Skint6	T	A	4: 112,749,187 (GRCm39)	S798C	probably benign	Het
Slc35f1	T	C	10: 52,898,000 (GRCm39)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,485,373 (GRCm39)	N246S	probably damaging	Het
Slc7a2	T	C	8: 41,369,534 (GRCm39)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,761,173 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,439,330 (GRCm39)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm39)	I227T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Ssu2	A	T	6: 112,361,388 (GRCm39)	L23M	probably benign	Het
Syne2	A	G	12: 76,141,053 (GRCm39)		probably null	Het
Tekt1	T	C	11: 72,242,761 (GRCm39)	T249A	probably benign	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,605,846 (GRCm39)	P529L	probably damaging	Het
Tll1	C	T	8: 64,478,141 (GRCm39)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,598,664 (GRCm39)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,673,479 (GRCm39)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,026 (GRCm39)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,601,650 (GRCm39)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,945,436 (GRCm39)	T724A	probably benign	Het
Wdr11	T	C	7: 129,206,954 (GRCm39)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,107,047 (GRCm39)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,381,897 (GRCm39)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,159,987 (GRCm39)	M1R	probably null	Het
Zkscan8	G	A	13: 21,709,325 (GRCm39)	P191L	probably damaging	Het

Other mutations in Jakmip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Jakmip2	APN	18	43,723,744 (GRCm39)	utr 5 prime	probably benign
IGL01311:Jakmip2	APN	18	43,690,389 (GRCm39)	splice site	probably benign
IGL01467:Jakmip2	APN	18	43,715,352 (GRCm39)	missense	probably benign	0.34
IGL01947:Jakmip2	APN	18	43,680,159 (GRCm39)	missense	probably benign	0.00
IGL02010:Jakmip2	APN	18	43,692,158 (GRCm39)	critical splice donor site	probably null
IGL02040:Jakmip2	APN	18	43,704,919 (GRCm39)	missense	probably benign
IGL02143:Jakmip2	APN	18	43,696,350 (GRCm39)	missense	probably damaging	1.00
IGL02246:Jakmip2	APN	18	43,700,223 (GRCm39)	missense	possibly damaging	0.82
IGL02350:Jakmip2	APN	18	43,680,192 (GRCm39)	missense	possibly damaging	0.46
IGL02357:Jakmip2	APN	18	43,680,192 (GRCm39)	missense	possibly damaging	0.46
IGL02725:Jakmip2	APN	18	43,695,655 (GRCm39)	missense	probably damaging	0.99
IGL02833:Jakmip2	APN	18	43,708,516 (GRCm39)	splice site	probably benign
IGL02866:Jakmip2	APN	18	43,685,266 (GRCm39)	missense	probably benign	0.28
IGL02981:Jakmip2	APN	18	43,695,595 (GRCm39)	critical splice donor site	probably null
R0042:Jakmip2	UTSW	18	43,685,210 (GRCm39)	splice site	probably benign
R0044:Jakmip2	UTSW	18	43,715,170 (GRCm39)	missense	probably benign
R0436:Jakmip2	UTSW	18	43,691,234 (GRCm39)	nonsense	probably null
R1453:Jakmip2	UTSW	18	43,692,279 (GRCm39)	splice site	probably null
R1682:Jakmip2	UTSW	18	43,714,896 (GRCm39)	critical splice donor site	probably null
R1829:Jakmip2	UTSW	18	43,715,145 (GRCm39)	missense	possibly damaging	0.93
R2070:Jakmip2	UTSW	18	43,696,395 (GRCm39)	missense	probably benign	0.34
R2168:Jakmip2	UTSW	18	43,698,995 (GRCm39)	missense	probably damaging	1.00
R2985:Jakmip2	UTSW	18	43,704,246 (GRCm39)	missense	possibly damaging	0.79
R3896:Jakmip2	UTSW	18	43,682,751 (GRCm39)	missense	probably benign	0.00
R4243:Jakmip2	UTSW	18	43,710,501 (GRCm39)	missense	probably benign	0.02
R4245:Jakmip2	UTSW	18	43,710,501 (GRCm39)	missense	probably benign	0.02
R4614:Jakmip2	UTSW	18	43,695,657 (GRCm39)	missense	probably damaging	1.00
R4687:Jakmip2	UTSW	18	43,710,477 (GRCm39)	missense	possibly damaging	0.52
R4830:Jakmip2	UTSW	18	43,700,208 (GRCm39)	missense	probably benign	0.00
R4852:Jakmip2	UTSW	18	43,710,465 (GRCm39)	missense	probably damaging	0.99
R5099:Jakmip2	UTSW	18	43,701,173 (GRCm39)	missense	probably benign	0.20
R5381:Jakmip2	UTSW	18	43,715,025 (GRCm39)	missense	probably damaging	1.00
R5753:Jakmip2	UTSW	18	43,692,181 (GRCm39)	missense	probably damaging	0.99
R5883:Jakmip2	UTSW	18	43,715,059 (GRCm39)	missense	possibly damaging	0.59
R6261:Jakmip2	UTSW	18	43,708,599 (GRCm39)	missense	probably benign	0.01
R6382:Jakmip2	UTSW	18	43,704,244 (GRCm39)	missense	possibly damaging	0.66
R6527:Jakmip2	UTSW	18	43,689,589 (GRCm39)	missense	possibly damaging	0.94
R6612:Jakmip2	UTSW	18	43,690,432 (GRCm39)	missense	probably damaging	1.00
R6679:Jakmip2	UTSW	18	43,699,014 (GRCm39)	missense	probably damaging	0.98
R7070:Jakmip2	UTSW	18	43,690,393 (GRCm39)	critical splice donor site	probably null
R7103:Jakmip2	UTSW	18	43,673,648 (GRCm39)	splice site	probably null
R7434:Jakmip2	UTSW	18	43,690,444 (GRCm39)	missense	possibly damaging	0.94
R7446:Jakmip2	UTSW	18	43,710,390 (GRCm39)	missense	probably damaging	1.00
R7515:Jakmip2	UTSW	18	43,704,191 (GRCm39)	missense	probably benign	0.01
R7586:Jakmip2	UTSW	18	43,673,676 (GRCm39)	missense	probably damaging	0.98
R7720:Jakmip2	UTSW	18	43,704,973 (GRCm39)	missense	possibly damaging	0.51
R7999:Jakmip2	UTSW	18	43,696,398 (GRCm39)	missense	probably benign	0.21
R9002:Jakmip2	UTSW	18	43,715,323 (GRCm39)	missense	probably benign	0.05
R9184:Jakmip2	UTSW	18	43,715,352 (GRCm39)	missense	probably benign	0.34
R9248:Jakmip2	UTSW	18	43,685,242 (GRCm39)	missense	probably benign	0.04
R9252:Jakmip2	UTSW	18	43,715,194 (GRCm39)	missense	possibly damaging	0.92
R9674:Jakmip2	UTSW	18	43,704,961 (GRCm39)	missense	probably benign
R9691:Jakmip2	UTSW	18	43,673,685 (GRCm39)	missense	probably damaging	0.99
R9788:Jakmip2	UTSW	18	43,704,927 (GRCm39)	missense	probably damaging	1.00
X0057:Jakmip2	UTSW	18	43,699,035 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- AGGTTTGAAAAGTCCCTAGGG -3'
(R):5'- TCCGTGATCTCAGTGTTCATCTAG -3'

Sequencing Primer
(F):5'- GTCCCTAGGGAGATTATATGACATAG -3'
(R):5'- CATCTAGATCTGCCCTAGGGAATG -3'

Posted On

2014-06-30